MITOMAP References for Variant A3243T at 3243

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9168904 Shaag, A., Saada, A., Steinberg, A., Navon, P., Elpeleg, O. N. (1997) Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T) Biochemical and Biophysical Research Communications . 233 (3): 637-639 .
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
31965079 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
12729737 Sohm, B., Frugier, M., Brule, H., Olszak, K., Przykorska, A., Florentz, C. (2003) Towards understanding human mitochondrial leucine aminoacylation identity Journal of Molecular Biology . 328 (5): 995-1010 .
16950816 Pyle, A., Taylor, R. W., Durham, S. E., Deschauer, M., Schaefer, A. M., Samuels, D. C., Chinnery, P. F. (2007) Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation Journal of Medical Genetics . 44 (1): 69-74 .
18203188 Longo, N., Schrijver, I., Vogel, H., Pique, L. M., Cowan, T. M., Pasquali, M., Steinberg, G. K., Hedlund, G. L., Ernst, S. L., Gallagher, R. C., Enns, G. M. (2008) Progressive cerebral vascular degeneration with mitochondrial encephalopathy American Journal of Medical Genetics . 146 (3): 361-367 .
20471262 Alston, C. L., Bender, A., Hargreaves, I. P., Mundy, H., Deshpande, C., Klopstock, T., McFarland, R., Horvath, R., Taylor, R. W. (2010) The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype Neuromuscular Disorders . 20 (6): 403-406 .